Canonical Allele Identifier: CA969579817

Gene: FBN1

Linked Data

• dbSNP Id: rs2042875278
• gnomAD v3: 15-48412848-C-T
• gnomAD v4: 15-48412848-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412848C>T , CM000677.2:g.48412848C>T	GRCh38
NC_000015.9:g.48705045C>T , CM000677.1:g.48705045C>T	GRCh37
NC_000015.8:g.46492337C>T	NCBI36
NG_008805.2:g.237941G>A , LRG_778:g.237941G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*860-105G>A	ENSP00000453958.2:n.*860-105G>A
ENST00000674301.2:c.*1565-105G>A	ENSP00000501333.2:n.*1565-105G>A
ENST00000682158.1:n.1433-105G>A
ENST00000682170.1:n.2233-105G>A
ENST00000682767.1:n.1349-105G>A
ENST00000316623.10:c.8052-105G>A MANE Select	ENSP00000325527.5:n.8052-105G>A
ENST00000674301.1:c.3218-105G>A	ENSP00000501333.1:n.3218-105G>A
ENST00000316623.9:c.8052-105G>A	ENSP00000325527.5:n.8052-105G>A
ENST00000559133.5:c.3421-105G>A
ENST00000561429.1:n.307-105G>A
NM_000138.4:c.8052-105G>A , LRG_778t1:c.8052-105G>A	NP_000129.3:n.8052-105G>A
NM_000138.5:c.8052-105G>A MANE Select	NP_000129.3:n.8052-105G>A